Incidental Mutation 'R9243:Itgb1'
| ID |
701096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb1
|
| Ensembl Gene |
ENSMUSG00000025809 |
| Gene Name |
integrin beta 1 (fibronectin receptor beta) |
| Synonyms |
Gm9863, Fnrb, CD29, beta1 integrin, 4633401G24Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9243 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
129412135-129459681 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129433587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 34
(S34T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090006]
[ENSMUST00000124826]
|
| AlphaFold |
P09055 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090006
AA Change: S34T
PolyPhen 2
Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000087457
Gene: ENSMUSG00000025809
AA Change: S34T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PSI
|
26 |
76 |
3.01e-7 |
SMART |
|
INB
|
34 |
464 |
2e-298 |
SMART |
|
VWA
|
142 |
372 |
1.45e0 |
SMART |
|
low complexity region
|
568 |
581 |
N/A |
INTRINSIC |
|
Pfam:EGF_2
|
599 |
630 |
8.8e-8 |
PFAM |
|
Integrin_B_tail
|
640 |
728 |
4.58e-37 |
SMART |
|
transmembrane domain
|
729 |
751 |
N/A |
INTRINSIC |
|
Integrin_b_cyt
|
752 |
798 |
3.43e-27 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124826
AA Change: S34T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120026
Gene: ENSMUSG00000025809
AA Change: S34T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PDB:3VI4|D
|
21 |
51 |
2e-16 |
PDB |
|
Blast:PSI
|
26 |
51 |
1e-11 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (51/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants die at or soon after implantation. Tissue-specific knockouts exhibit skin blisters, hair-loss, brain and heart defects, and impaired immune responses, wound healing, and hematopoietic stem cell migration, respectively. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
T |
A |
12: 53,188,035 (GRCm39) |
S1816R |
probably benign |
Het |
| Appl1 |
A |
T |
14: 26,649,710 (GRCm39) |
F605L |
possibly damaging |
Het |
| Cacna1g |
T |
A |
11: 94,347,893 (GRCm39) |
I732F |
possibly damaging |
Het |
| Capg |
T |
A |
6: 72,538,070 (GRCm39) |
S319T |
probably benign |
Het |
| Cdh17 |
T |
A |
4: 11,771,333 (GRCm39) |
F38L |
probably benign |
Het |
| Cep295 |
T |
A |
9: 15,243,605 (GRCm39) |
N1617I |
probably benign |
Het |
| Cep57 |
C |
T |
9: 13,738,204 (GRCm39) |
|
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,195,265 (GRCm39) |
|
probably benign |
Het |
| Csnk1g2 |
C |
A |
10: 80,475,648 (GRCm39) |
A405E |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,857,871 (GRCm39) |
V1481A |
unknown |
Het |
| Exoc2 |
T |
C |
13: 31,109,778 (GRCm39) |
K197E |
probably benign |
Het |
| Fancg |
C |
T |
4: 43,006,565 (GRCm39) |
V330I |
possibly damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Gad2 |
A |
G |
2: 22,525,053 (GRCm39) |
E279G |
possibly damaging |
Het |
| Gria1 |
A |
G |
11: 57,128,888 (GRCm39) |
Y454C |
probably benign |
Het |
| Grik3 |
C |
T |
4: 125,601,690 (GRCm39) |
R856C |
probably benign |
Het |
| Hdac4 |
C |
A |
1: 91,900,511 (GRCm39) |
R622I |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,900,512 (GRCm39) |
R622G |
probably benign |
Het |
| Htt |
T |
C |
5: 35,056,276 (GRCm39) |
|
probably benign |
Het |
| Idh1 |
A |
G |
1: 65,207,656 (GRCm39) |
|
probably null |
Het |
| Igf1r |
A |
G |
7: 67,861,775 (GRCm39) |
S1112G |
probably benign |
Het |
| Impg2 |
A |
T |
16: 56,051,823 (GRCm39) |
S242C |
probably damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,205,542 (GRCm39) |
I546V |
probably damaging |
Het |
| Klrd1 |
T |
G |
6: 129,568,795 (GRCm39) |
M1R |
probably null |
Het |
| Krtap16-1 |
A |
T |
11: 99,876,644 (GRCm39) |
C253* |
probably null |
Het |
| Mapk7 |
A |
G |
11: 61,384,535 (GRCm39) |
I57T |
possibly damaging |
Het |
| Msrb2 |
A |
G |
2: 19,388,073 (GRCm39) |
N74D |
probably benign |
Het |
| Myd88 |
A |
T |
9: 119,168,773 (GRCm39) |
S85T |
probably benign |
Het |
| Myo1c |
G |
T |
11: 75,541,437 (GRCm39) |
|
probably benign |
Het |
| Nnt |
T |
A |
13: 119,494,060 (GRCm39) |
N674Y |
unknown |
Het |
| Nrcam |
A |
G |
12: 44,620,607 (GRCm39) |
Y878C |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,023,392 (GRCm39) |
T662A |
probably benign |
Het |
| Or14j4 |
T |
C |
17: 37,921,408 (GRCm39) |
Q78R |
probably benign |
Het |
| Or4l15 |
A |
G |
14: 50,197,881 (GRCm39) |
V216A |
probably benign |
Het |
| Or51ah3 |
A |
G |
7: 103,209,782 (GRCm39) |
S33G |
probably benign |
Het |
| Or8k40 |
A |
G |
2: 86,584,282 (GRCm39) |
S267P |
possibly damaging |
Het |
| Pappa2 |
C |
A |
1: 158,763,763 (GRCm39) |
V583L |
probably damaging |
Het |
| Parp1 |
T |
G |
1: 180,415,680 (GRCm39) |
S500A |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,989 (GRCm39) |
D593G |
probably damaging |
Het |
| Pex19 |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
1: 171,956,150 (GRCm39) |
|
probably null |
Het |
| Prrc1 |
C |
G |
18: 57,496,271 (GRCm39) |
S74W |
possibly damaging |
Het |
| Rag2 |
G |
A |
2: 101,460,419 (GRCm39) |
G243D |
probably damaging |
Het |
| Sgpp1 |
T |
C |
12: 75,781,961 (GRCm39) |
E126G |
probably damaging |
Het |
| Skic2 |
G |
A |
17: 35,064,198 (GRCm39) |
T496M |
probably benign |
Het |
| Slc17a1 |
C |
A |
13: 24,064,432 (GRCm39) |
F329L |
probably benign |
Het |
| Slc52a3 |
G |
A |
2: 151,846,512 (GRCm39) |
V158I |
probably benign |
Het |
| Slf1 |
T |
A |
13: 77,273,575 (GRCm39) |
T75S |
possibly damaging |
Het |
| Smok2b |
G |
A |
17: 13,453,637 (GRCm39) |
|
probably null |
Het |
| Tmem125 |
A |
T |
4: 118,399,089 (GRCm39) |
V114E |
probably damaging |
Het |
| Ube2f |
A |
T |
1: 91,181,980 (GRCm39) |
|
probably benign |
Het |
| Zdhhc19 |
T |
A |
16: 32,315,992 (GRCm39) |
F30I |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,662,050 (GRCm39) |
|
probably benign |
Het |
| Zfp462 |
C |
A |
4: 55,009,595 (GRCm39) |
Y520* |
probably null |
Het |
| Zzz3 |
A |
G |
3: 152,133,920 (GRCm39) |
D326G |
probably damaging |
Het |
|
| Other mutations in Itgb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00232:Itgb1
|
APN |
8 |
129,440,399 (GRCm39) |
splice site |
probably benign |
|
|
IGL01407:Itgb1
|
APN |
8 |
129,449,315 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03025:Itgb1
|
APN |
8 |
129,449,065 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
Drystacked
|
UTSW |
8 |
129,458,535 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Jumble
|
UTSW |
8 |
129,440,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4377001:Itgb1
|
UTSW |
8 |
129,436,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0136:Itgb1
|
UTSW |
8 |
129,449,335 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0244:Itgb1
|
UTSW |
8 |
129,444,166 (GRCm39) |
splice site |
probably benign |
|
|
R0483:Itgb1
|
UTSW |
8 |
129,452,648 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0606:Itgb1
|
UTSW |
8 |
129,448,853 (GRCm39) |
unclassified |
probably benign |
|
|
R0657:Itgb1
|
UTSW |
8 |
129,449,335 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0865:Itgb1
|
UTSW |
8 |
129,436,732 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1052:Itgb1
|
UTSW |
8 |
129,439,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1429:Itgb1
|
UTSW |
8 |
129,444,157 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1589:Itgb1
|
UTSW |
8 |
129,431,940 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1589:Itgb1
|
UTSW |
8 |
129,431,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1614:Itgb1
|
UTSW |
8 |
129,446,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1672:Itgb1
|
UTSW |
8 |
129,458,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1723:Itgb1
|
UTSW |
8 |
129,452,519 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1865:Itgb1
|
UTSW |
8 |
129,446,938 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3786:Itgb1
|
UTSW |
8 |
129,439,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4223:Itgb1
|
UTSW |
8 |
129,440,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4756:Itgb1
|
UTSW |
8 |
129,443,703 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4826:Itgb1
|
UTSW |
8 |
129,446,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4880:Itgb1
|
UTSW |
8 |
129,442,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5202:Itgb1
|
UTSW |
8 |
129,446,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5682:Itgb1
|
UTSW |
8 |
129,453,549 (GRCm39) |
splice site |
probably null |
|
|
R5935:Itgb1
|
UTSW |
8 |
129,439,718 (GRCm39) |
nonsense |
probably null |
|
|
R6156:Itgb1
|
UTSW |
8 |
129,458,535 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6160:Itgb1
|
UTSW |
8 |
129,446,764 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6248:Itgb1
|
UTSW |
8 |
129,448,902 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6812:Itgb1
|
UTSW |
8 |
129,431,891 (GRCm39) |
splice site |
probably null |
|
|
R6869:Itgb1
|
UTSW |
8 |
129,446,516 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7249:Itgb1
|
UTSW |
8 |
129,446,885 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7496:Itgb1
|
UTSW |
8 |
129,446,786 (GRCm39) |
missense |
probably benign |
|
|
R7679:Itgb1
|
UTSW |
8 |
129,446,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7787:Itgb1
|
UTSW |
8 |
129,453,499 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7800:Itgb1
|
UTSW |
8 |
129,439,718 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8015:Itgb1
|
UTSW |
8 |
129,448,882 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8687:Itgb1
|
UTSW |
8 |
129,442,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8709:Itgb1
|
UTSW |
8 |
129,439,887 (GRCm39) |
intron |
probably benign |
|
|
R8979:Itgb1
|
UTSW |
8 |
129,448,951 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9389:Itgb1
|
UTSW |
8 |
129,433,637 (GRCm39) |
missense |
probably benign |
|
|
R9398:Itgb1
|
UTSW |
8 |
129,452,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Itgb1
|
UTSW |
8 |
129,439,850 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTAGTAACTGGGCTGCATTTG -3'
(R):5'- CAAACAGCTGAGTGAAGACATATAC -3'
Sequencing Primer
(F):5'- CTGGGCTGCATTTGTTCATTTTTAAC -3'
(R):5'- CATGGACTGACACTCTGCTTTGAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation